Canonical Allele Identifier: CA4537434

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2934102
• ClinVar RCV Id: RCV003795852
• dbSNP Id: rs766791096
• ExAC: 7:143039012 G / A
• gnomAD v2: 7-143039012-G-A
• gnomAD v4: 7-143341919-G-A
• MyVariant Identifiers: chr7:g.143039012G>A (hg19) ; chr7:g.143341919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341919G>A , CM000669.2:g.143341919G>A	GRCh38
NC_000007.13:g.143039012G>A , CM000669.1:g.143039012G>A	GRCh37
NC_000007.12:g.142749134G>A	NCBI36
NG_009815.1:g.30794G>A
NG_009815.2:g.30794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-10G>A	ENSP00000498052.2:n.1583-10G>A
ENST00000343257.7:c.1583-10G>A MANE Select	ENSP00000339867.2:n.1583-10G>A
ENST00000432192.6:c.1407-10G>A
ENST00000343257.6:c.1583-10G>A	ENSP00000339867.2:n.1583-10G>A
NM_000083.2:c.1583-10G>A	NP_000074.2:n.1583-10G>A
NR_046453.1:n.1523-10G>A
XM_011515781.1:c.1607-10G>A	XP_011514083.1:n.1607-10G>A
XM_011515782.1:c.329-10G>A	XP_011514084.1:n.329-10G>A
XM_011515782.2:c.329-10G>A	XP_011514084.1:n.329-10G>A
XM_017011739.1:c.1157-10G>A	XP_016867228.1:n.1157-10G>A
XM_017011740.1:c.1133-10G>A	XP_016867229.1:n.1133-10G>A
NM_000083.3:c.1583-10G>A MANE Select	NP_000074.3:n.1583-10G>A
NR_046453.2:n.1538-10G>A